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Page 1
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
Auger J, Baptiste A, Benabbad I, Thierry G, Costa JM, Amouyal M, Kottler ML, Leheup B, Touraine R, Schmitt S, Lebrun M, Cormier Daire V, Bonnefont JP, de Roux N, Elie C, Rosilio M. Auger J, et al. Horm Res Paediatr. 2016;86(5):309-318. doi: 10.1159/000448282. Epub 2016 Sep 28. Horm Res Paediatr. 2016. PMID: 27676402
BACKGROUND: The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Leri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. ...Genotype-phen …
BACKGROUND: The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic …
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.
Song SH, Balce GC, Agashe MV, Lee H, Hong SJ, Park YE, Kim SG, Song HR. Song SH, et al. Am J Med Genet A. 2012 Oct;158A(10):2456-62. doi: 10.1002/ajmg.a.35564. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903874
We applied a comprehensive set of clinical and radiological criteria for the diagnosis of hypochondroplasia (HCH) in 160 patients with short stature 58 of whom were diagnosed to have HCH. Taking into account the genotypic and phenotypic variations in HCH, we conduct …
We applied a comprehensive set of clinical and radiological criteria for the diagnosis of hypochondroplasia (HCH) in 160 patients with sh …
Prenatal diagnosis of achondrogenesis.
Golbus MS, Hall BD, Filly RA, Poskanzer LB. Golbus MS, et al. J Pediatr. 1977 Sep;91(3):464-6. doi: 10.1016/s0022-3476(77)81326-7. J Pediatr. 1977. PMID: 894421
Severe rhizomelic and mesomelic dwarfism was demonstrated in a 20-week gestation fetus by amniography. ...
Severe rhizomelic and mesomelic dwarfism was demonstrated in a 20-week gestation fetus by amniography. ...
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.
Bunyan DJ, Baker KR, Harvey JF, Thomas NS. Bunyan DJ, et al. Am J Med Genet A. 2013 Jun;161A(6):1329-38. doi: 10.1002/ajmg.a.35919. Epub 2013 May 1. Am J Med Genet A. 2013. PMID: 23636926
We have analyzed the coding sequence of the SHOX gene and its downstream regulatory regions in a cohort of 377 individuals referred with symptoms of LWD, LMD or short stature. A causative mutation was identified in 68% of the probands with LWD or LMD (91/134). ...In …
We have analyzed the coding sequence of the SHOX gene and its downstream regulatory regions in a cohort of 377 individuals referred with sym …
Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome.
Blum WF, Cao D, Hesse V, Fricke-Otto S, Ross JL, Jones C, Quigley CA, Binder G. Blum WF, et al. Horm Res. 2009;71(3):167-72. doi: 10.1159/000197874. Epub 2009 Feb 3. Horm Res. 2009. PMID: 19188742
BACKGROUND: Patients with mutations or deletions of the Short Stature Homeobox-containing(SHOX) gene have variable degrees of growth impairment, with or without mesomelic skeletal dysplasia. If untreated, short patients with SHOX deficiency remain s …
BACKGROUND: Patients with mutations or deletions of the Short Stature Homeobox-containing(SHOX) gene have variable degrees of …
Height outcome of the recombinant human growth hormone treatment in patients with SHOX gene haploinsufficiency: a meta-analysis.
Massart F, Bizzi M, Baggiani A, Miccoli M. Massart F, et al. Pharmacogenomics. 2013 Apr;14(6):607-12. doi: 10.2217/pgs.13.44. Pharmacogenomics. 2013. PMID: 23570464
BACKGROUND: Patients with mutations or deletions of the SHOX gene present variable growth impairment, with or without mesomelic skeletal dysplasia. If untreated, short patients with SHOX haplodeficiency (SHOXD) remain short into adulthood. Although recombinan …
BACKGROUND: Patients with mutations or deletions of the SHOX gene present variable growth impairment, with or without mesomelic skele …